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urocanase deficiency (DOID:0112180)
Alliance: disease page
Synonyms: encephalopathy due to urocanase deficiency; high urine urocanic acid levels; urocanate hydratase deficiency; urocanic aciduria; UROCD
Alt IDs: OMIM:276880, MESH:C536479, ORDO:210128, UMLS_CUI:C0268514
Definition: A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the UROC1 gene on chromosome 3q21.3.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory